MPDU1[gene] and "single gene"[properties] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1228784	NM_004870.4(MPDU1):c.104-195_104-194del	MPDU1	Deletion (intron variant)	not provided	GBenign
Select item 386602	NM_004870.4(MPDU1):c.114C>G (p.Leu38=)	MPDU1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 325514	NM_004870.4(MPDU1):c.121C>G (p.Leu41Val)	MPDU1 (L41V)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 2324544	NM_004870.4(MPDU1):c.127A>C (p.Ser43Arg)	MPDU1 (S43R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492692	NM_004870.4(MPDU1):c.134G>T (p.Gly45Val)	MPDU1 (G45V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 996029	NM_004870.4(MPDU1):c.137T>C (p.Leu46Pro)	MPDU1 (L46P)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1302252	NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr)	MPDU1 (I50T)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2237774	NM_004870.4(MPDU1):c.169+4T>G	MPDU1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1970053	NM_004870.4(MPDU1):c.170-1G>A	MPDU1	Single nucleotide variant (splice acceptor variant)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1017785	NM_004870.4(MPDU1):c.184G>A (p.Val62Met)	MPDU1 (V62M)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 889663	NM_004870.4(MPDU1):c.189T>G (p.Phe63Leu)	MPDU1 (F63L)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 761854	NM_004870.4(MPDU1):c.207G>A (p.Lys69=)	MPDU1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 5867	NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)	MPDU1 (G73E)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 5871	NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser)	MPDU1 (L74S)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GPathogenic
Select item 2485699	NM_004870.4(MPDU1):c.230A>C (p.Gln77Pro)	MPDU1 (Q77P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 259558	NM_004870.4(MPDU1):c.302+21C>T	MPDU1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1283837	NM_004870.4(MPDU1):c.303-240_303-239del	MPDU1	Deletion (intron variant)	not provided	GBenign
Select item 1347327	NM_004870.4(MPDU1):c.303-16A>G	MPDU1	Single nucleotide variant (intron variant)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1651094	NM_004870.4(MPDU1):c.303-9A>G	MPDU1	Single nucleotide variant (intron variant)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 495318	NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser)	MPDU1 (G104S)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GLikely pathogenic
Select item 1903250	NM_004870.4(MPDU1):c.337A>T (p.Thr113Ser)	MPDU1 (T113S)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 889664	NM_004870.4(MPDU1):c.338C>T (p.Thr113Met)	MPDU1 (T113M)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 5868	NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro)	MPDU1 (L119P)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GPathogenic
Select item 495319	NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro)	MPDU1 (Q126P)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GLikely pathogenic
Select item 740426	NM_004870.4(MPDU1):c.388+10A>G	MPDU1 (D133G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3064734	NM_004870.4(MPDU1):c.388+17del	MPDU1 (K136fs)	Deletion (frameshift variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 681461	NM_004870.4(MPDU1):c.388+16C>G	MPDU1 (P135R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2647366	NM_004870.4(MPDU1):c.388+59C>G	MPDU1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 325515	NM_004870.4(MPDU1):c.393C>T (p.Val131=)	MPDU1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3201135	NM_004870.4(MPDU1):c.400C>G (p.Leu134Val)	MPDU1 (L134V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 851551	NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr)	MPDU1 (A135T)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 95180	NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro)	MPDU1 (A135P)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation +2 more	GBenign
Select item 1937258	NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys)	MPDU1 (Y137C)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325516	NM_004870.4(MPDU1):c.411C>T (p.Tyr137=)	MPDU1	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 891228	NM_004870.4(MPDU1):c.437C>T (p.Ser146Leu)	MPDU1 (S146L)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 736476	NM_004870.4(MPDU1):c.444G>A (p.Leu148=)	MPDU1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 325517	NM_004870.4(MPDU1):c.450C>T (p.Pro150=)	MPDU1	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 3252901	NM_004870.4(MPDU1):c.452del (p.Pro150_Leu151insTer)	MPDU1	Deletion (nonsense +2 more)	not provided	GUncertain significance
Select item 1956438	NM_004870.4(MPDU1):c.468G>A (p.Leu156=)	MPDU1	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 533016	NM_004870.4(MPDU1):c.477del (p.Ser160fs)	MPDU1 (S160fs)	Deletion (frameshift variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 3201138	NM_004870.4(MPDU1):c.482A>G (p.Asn161Ser)	MPDU1 (N161S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 259559	NM_004870.4(MPDU1):c.507+44G>C	MPDU1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 325518	NM_004870.4(MPDU1):c.508-9C>T	MPDU1	Single nucleotide variant (intron variant)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 523948	NM_004870.4(MPDU1):c.511del (p.Leu171fs)	MPDU1 (S152fs +1 more)	Deletion (frameshift variant +1 more)	MPDU1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 930801	NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter)	MPDU1 (Q172*)	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely pathogenic
Select item 774455	NM_004870.4(MPDU1):c.537C>T (p.Asn179=)	MPDU1 (T160M)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 325519	NM_004870.4(MPDU1):c.560C>T (p.Ala187Val)	MPDU1 (A187V +1 more)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 817696	NM_004870.4(MPDU1):c.566_567del (p.Thr189fs)	MPDU1 (T189fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1036624	NM_004870.4(MPDU1):c.573C>A (p.Phe191Leu)	MPDU1 (S172Y +1 more)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1137819	NM_004870.4(MPDU1):c.582T>C (p.Phe194=)	MPDU1 (L175S)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 2052017	NM_004870.4(MPDU1):c.589T>C (p.Ser197Pro)	MPDU1 (S197P)	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1661950	NM_004870.4(MPDU1):c.591C>G (p.Ser197=)	MPDU1 (P178R)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 966796	NM_004870.4(MPDU1):c.599G>A (p.Arg200Gln)	MPDU1 (R200Q +1 more)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1034126	NM_004870.4(MPDU1):c.613A>G (p.Ile205Val)	MPDU1 (I205V)	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 387361	NM_004870.4(MPDU1):c.618+14C>T	MPDU1	Single nucleotide variant (intron variant)	MPDU1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2691673	NM_004870.4(MPDU1):c.619-17C>G	MPDU1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 631790	NM_004870.4(MPDU1):c.619-2A>G	MPDU1	Single nucleotide variant (splice acceptor variant)	MPDU1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1511958	NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala)	MPDU1 (I191M +1 more)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1628852	NM_004870.4(MPDU1):c.636G>C (p.Leu212=)	MPDU1	Single nucleotide variant (stop lost +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 2515648	NM_004870.4(MPDU1):c.644G>A (p.Gly215Glu)	MPDU1 (G215E)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 509198	NM_004870.4(MPDU1):c.648C>T (p.Thr216=)	MPDU1	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 703364	NM_004870.4(MPDU1):c.652G>T (p.Val218Leu)	MPDU1 (V218L)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GBenign/Likely benign
Select item 2663022	NM_004870.4(MPDU1):c.666_667del (p.Cys223fs)	MPDU1 (C223fs)	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 703346	NM_004870.4(MPDU1):c.662C>G (p.Ser221Cys)	MPDU1 (S221C)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 682554	NM_004870.4(MPDU1):c.672C>T (p.Asn224=)	MPDU1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 325520	NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser)	MPDU1 (G225S)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 95181	NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr)	MPDU1 (A229T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 3201154	NM_004870.4(MPDU1):c.703T>C (p.Trp235Arg)	MPDU1 (W235R)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1444219	NM_004870.4(MPDU1):c.713A>G (p.Lys238Arg)	MPDU1 (K238R)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 892416	NM_004870.4(MPDU1):c.724A>C (p.Lys242Gln)	MPDU1 (K242Q)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 849655	NM_004870.4(MPDU1):c.729G>C (p.Gln243His)	MPDU1 (Q243H)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325521	NM_004870.4(MPDU1):c.735G>A (p.Lys245=)	MPDU1	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 2689438	NM_004870.4(MPDU1):c.740A>T (p.Gln247Leu)	MPDU1 (Q247L)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 892417	NM_004870.4(MPDU1):c.*27C>T	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325522	NM_004870.4(MPDU1):c.*105G>A	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 892418	NM_004870.4(MPDU1):c.*135C>G	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325523	NM_004870.4(MPDU1):c.*255A>G	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325524	NM_004870.4(MPDU1):c.*308G>T	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation +1 more	GBenign
Select item 889035	NM_004870.4(MPDU1):c.*399G>C	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325525	NM_004870.4(MPDU1):c.*462C>T	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325526	NM_004870.4(MPDU1):c.*523dup	MPDU1	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 81